词条 | ATP6V1C2 |
释义 |
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms.[2] References1. ^{{cite journal | vauthors = Smith AN, Borthwick KJ, Karet FE | title = Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis | journal = Gene | volume = 297 | issue = 1–2 | pages = 169–77 |date=Oct 2002 | pmid = 12384298 | pmc = | doi =10.1016/S0378-1119(02)00884-3 }} {{refbegin | 2}}{{refend}}2. ^1 {{cite web | title = Entrez Gene: ATP6V1C2 ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=245973| accessdate = }} External links
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